Canonical Allele Identifier: CA915943725

Gene: SPAST

Linked Data

• ClinVar Variation Id: 639149
• ClinVar RCV Id: RCV000791882
• dbSNP Id: rs1573156341

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.32136923dup , CM000664.2:g.32136923dup	GRCh38
NC_000002.11:g.32361992dup , CM000664.1:g.32361992dup	GRCh37
NC_000002.10:g.32215496dup	NCBI36
NG_008730.1:g.78313dup , LRG_714:g.78313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704289.1:c.*1028dup	ENSP00000515816.1:n.*1028dup
ENST00000315285.9:c.1368dup MANE Select	ENSP00000320885.3:p.Ala457CysfsTer2
ENST00000621856.2:c.1365dup	ENSP00000482496.2:p.Ala456CysfsTer2
ENST00000642281.1:c.1105dup
ENST00000642455.1:c.1269dup	ENSP00000493827.1:p.Ala424CysfsTer2
ENST00000642751.1:c.1142dup
ENST00000642999.1:c.1110dup	ENSP00000496589.1:p.Ala371CysfsTer2
ENST00000643327.1:c.481-186dup
ENST00000643334.1:c.948dup
ENST00000644408.1:c.1244dup
ENST00000644954.1:c.1014dup	ENSP00000494312.1:p.Ala339CysfsTer2
ENST00000645159.1:n.2105dup
ENST00000645671.1:c.818dup
ENST00000645730.1:c.593-186dup
ENST00000646082.1:c.1014dup
ENST00000646571.1:c.1272dup	ENSP00000495015.1:p.Ala425CysfsTer2
ENST00000647007.1:n.1060dup
ENST00000647133.1:c.868dup
ENST00000315285.7:c.1368dup	ENSP00000320885.3:p.Ala457CysfsTer2
ENST00000345662.5:c.1272dup	ENSP00000340817.1:p.Ala425CysfsTer2
ENST00000615843.4:c.1368dup	ENSP00000480893.1:p.Ala457CysfsTer2
ENST00000621856.1:c.1110dup	ENSP00000482496.1:p.Ala371CysfsTer2
NM_014946.3:c.1368dup , LRG_714t1:c.1368dup	NP_055761.2:p.Ala457CysfsTer2
NM_199436.1:c.1272dup	NP_955468.1:p.Ala425CysfsTer2
XM_005264516.3:c.1365dup	XP_005264573.1:p.Ala456CysfsTer2
XM_011533067.1:c.1368dup	XP_011531369.1:p.Ala457CysfsTer2
NM_001363823.1:c.1365dup	NP_001350752.1:p.Ala456CysfsTer2
NM_001363875.1:c.1269dup	NP_001350804.1:p.Ala424CysfsTer2
XM_005264516.5:c.1365dup	XP_005264573.1:p.Ala456CysfsTer2
XM_011533067.2:c.1368dup	XP_011531369.1:p.Ala457CysfsTer2
XM_017004778.2:c.1272dup	XP_016860267.1:p.Ala425CysfsTer2
NM_001363823.2:c.1365dup	NP_001350752.1:p.Ala456CysfsTer2
NM_001363875.2:c.1269dup	NP_001350804.1:p.Ala424CysfsTer2
NM_001377959.1:c.1272dup	NP_001364888.1:p.Ala425CysfsTer2
NM_014946.4:c.1368dup MANE Select	NP_055761.2:p.Ala457CysfsTer2
NM_199436.2:c.1272dup	NP_955468.1:p.Ala425CysfsTer2